Most hemochromatosis patients of Northern European descent are homozygous for the C282Y mutation of HFE gene. In Italy, many patients with iron overload are not homozygous for C282Y, and the presence of other mutations or other genetic determinant has been suggested.
Piperno, A., Arosio, C., Fossati, L., Viganò, M., Trombini, P., Vergani, A., et al. (2000). Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis. GASTROENTEROLOGY, 119(2), 441-445 [10.1053/gast.2000.9369].
Two novel nonsense mutations of HFE gene in five unrelated italian patients with hemochromatosis
PIPERNO, ALBERTOPrimo
;MANCIA, GIUSEPPEUltimo
2000
Abstract
Most hemochromatosis patients of Northern European descent are homozygous for the C282Y mutation of HFE gene. In Italy, many patients with iron overload are not homozygous for C282Y, and the presence of other mutations or other genetic determinant has been suggested.
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